NM_000925.4(PDHB):c.477A>C (p.Ser159=) AND Pyruvate dehydrogenase E1-beta deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001504969.5
Allele description [Variation Report for NM_000925.4(PDHB):c.477A>C (p.Ser159=)]
NM_000925.4(PDHB):c.477A>C (p.Ser159=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024